Protein and ammino acid metabolism is the object of two modules (Modules 6 and 7). Module 7 has a particular focus on the clinical conditions associated with deficits in this important metabolic pathway. Specifically, Glutaric aciduria type 1 and tyrosinemia type I are described. Glutaric aciduria type 1 (GA1), a defect of lysine metabolism, is an example of a “cerebral” organic aciduria in which decompensation leads towards severe irreversible dystonia. The importance of early diagnosis, dietary treatment and late-onset complications is highlighted. Tyrosinemia type I is a defect of the metabolism of tyrosine, the precursor of catecholamines, melanin and other substances. The therapy with Nitisinone (NTBC) has completely changed the outcome of this disease representing a role model of how metabolic diseases can be successfully treated.
Authors: Nikolas Boy, Bianca Dimitrov, Stefan Kölker, Anibh Martin Das
The Diagnostic, Clinical and Therapeutic Education Programme on Inherited Metabolic Disorders. Module 07: Proteins & aminoacids (II) made available on https://metab.ern-net.eu/education-programme/ and organized by MetabERN – European Reference Network for Hereditary Metabolic Disorders is accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) to provide the following CME activity for medical specialists. Only those e-learning materials that are displayed on the UEMS-EACCME® website have formally been accredited.
Only those e-learning materials that are displayed on the UEMS-EACCME® website have formally been accredited.
Through an agreement between the European Union of Medical Specialists and the American Medical Association, physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 Credits™. Information on the process to convert EACCME® credits to AMA credits can be found at https://edhub.ama-assn.org/pages/applications.
This Module has been awarded with 1,5 ECMEC® credits
